About: Mutation Analysis     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Mutation Analysis
rdfs:subClassOf
Semantic_Type
  • Laboratory Procedure
Preferred_Name
  • Mutation Analysis
UMLS_CUI
  • C0796357
ALT_DEFINITION
  • Germline genetic testing method targeted to detect a specific mutation (such as a deleterious MSH2 mutation previously identified in a family), panel of mutations (such as the 3 BRCA mutations comprising the founder mutation panel for individuals of Ashkenazi Jewish ancestry) or type of mutation (such as a large deletions or insertions in the BRCA1 gene). This type of testing is distinct from complete gene sequencing or mutation scanning. The latter are designed to detect most mutations in the region being tested. Current usage also applies this term to any genetic test.NCI-GLOSS
Legacy_Concept_Name
  • Mutation_Analysis
FULL_SYN
  • mutation analysisPTNCI-GLOSSCDR0000460195
  • Mutation AnalysisPTNCI
DEFINITION
  • A procedure to test for the presence of a specific mutation or a set of mutations as opposed to complete gene sequencing or mutation scanning, which detect most, if not all, mutations in the tested region. (From GeneTests).NCI
code
  • C18302
is rdfs:subClassOf of
Faceted Search & Find service v1.16.121 as of Mar 31 2025


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data]
OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 14 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software